Linked Data
dbSNP Id:
rs772665310
ExAC:
10:96540381 G / A
gnomAD v2:
10-96540381-G-A
gnomAD v3:
10-94780624-G-A
gnomAD v4:
10-94780624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780624G>A , CM000672.2:g.94780624G>A | GRCh38 |
| NC_000010.10:g.96540381G>A , CM000672.1:g.96540381G>A | GRCh37 |
| NC_000010.9:g.96530371G>A | NCBI36 |
| NG_008384.2:g.22919G>A | |
| NG_008384.3:g.22944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.607G>A MANE Select | ENSP00000360372.3:p.Glu203Lys | |
| ENST00000645461.1:n.1660G>A | ||
| ENST00000371321.7:c.607G>A | ENSP00000360372.3:p.Glu203Lys | |
| ENST00000464755.1:c.1370G>A | ENSP00000483243.1:n.1370G>A | |
| NM_000769.2:c.607G>A | NP_000760.1:p.Glu203Lys | |
| NM_000769.4:c.607G>A MANE Select | NP_000760.1:p.Glu203Lys |